Anemia, Sideroblastic
5-Aminolevulinate Synthetase
Anemia, Refractory
Genetic Diseases, X-Linked
Pyridoxine
Anemia, Aplastic
Erythroblasts
Anemia, Refractory, with Excess of Blasts
X Chromosome
Acidosis, Lactic
Glutaredoxins
Anemia, Hemolytic
Preleukemia
Iron
Hydro-Lyases
Fanconi Anemia
Ataxia
Bone Marrow
Anemia, Hemolytic, Autoimmune
Anemia, Hypochromic
Pedigree
Pyridoxal Phosphate
Anemia, Macrocytic
Anemia, Pernicious
Heme
Blood Transfusion
Erythropoiesis
Anemia, Sickle Cell
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (1/161)
X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinically pyridoxine-responsive. The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather. There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder. One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness. Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation. The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine. These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia. (+info)Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). (2/161)
X-linked sideroblastic anemia and ataxia (XLSA/A) is a recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia with hypochromia and microcytosis. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to Xq13, a region previously shown by linkage analysis to harbor the XLSA/A gene. This gene, ABC7, is an ortholog of the yeast ATM1 gene whose product localizes to the mitochondrial inner membrane and is involved in iron homeostasis. The full-length ABC7 cDNA was cloned and the entire coding region screened for mutations in a kindred in which five male members manifested XLSA/A. An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. The mutation was shown to segregate with the disease in the family and was not detected in at least 600 chromosomes of general population controls. Introduction of the corresponding mutation into the Saccharomyces cerevisiae ATM1 gene resulted in a partial loss of function of the yeast Atm1 protein. In addition, the human wild-type ABC7 protein was able to complement ATM1 deletion in yeast. These data indicate that ABC7 is the causal gene of XLSA/A and that XLSA/A is a mitochondrial disease caused by a mutation in the nuclear genome. (+info)Prognostic significance of magnetic resonance imaging of femoral marrow in patients with myelodysplastic syndromes. (3/161)
PURPOSE: To investigate whether the abnormalities observed on femoral marrow magnetic resonance images are related to the development of leukemia and survival of patients with myelodysplastic syndromes (MDS). PATIENTS AND METHODS: The findings on magnetic resonance images of the femoral marrow were evaluated over periods of 1 to 92 months (median, 18 months) in 42 consecutive adult patients with newly diagnosed MDS. Magnetic resonance images were obtained by the T1-weighted spin echo method and the short T1 inversion recovery technique. RESULTS: Magnetic resonance images showed that the femoral marrow patterns changed from fatty, faint, or nodular to scattered or uniform as the disease progressed. Development of acute myeloid leukemia was observed in only 13 patients whose marrow exhibited a scattered or uniform pattern. The overall survival of the 29 patients with a scattered or uniform marrow pattern was significantly shorter than that of the 13 patients with a fatty, faint, or nodular marrow pattern (10.7% v 73.3% at 7 years; P < .01). The period of leukemia-free survival was also significantly shorter in the patients with a scattered or uniform marrow pattern versus a fatty, faint, or nodular pattern (37.7% v 100% at 7 years; P < .01). CONCLUSION: Magnetic resonance images of the femoral marrow can provide valuable information for assessing the prognosis and determining the most appropriate management of patients with MDS. (+info)Nonrandom chromosomal abnormalities in hematologic disorders of man. (4/161)
A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormalities that occur more often than might be expected by chance. It is proposed that specific human chromosomal abnormalities may be related to different specific etiologic agents. (+info)Mother cell of megakaryocyte. (5/161)
It was attempted to describe the morphology of the most immature cell of megakaryocytic series. The megakaryocytes were observed with the electron microscope in five cases, being traced back to their immature forms. In two cases the most immature cells of megakaryocytic series were considered to be the cells which were probably identified as lymphocytes under the light microscope, but they were not lymphocytes with the electron microscope. In other two cases it was presumed that neutrophilic and megakaryocytic series were derived from morphologically similar immature cells, since the most immature cells of neutrophilic and megakaryocytic series were not distinguished when they were traced back to their immature forms. These findings suggest that mother cells of megakaryocytes in the adult bone marrow may be identified as lymphoid cells with the light microscope. (+info)Mechanism of platelet liberation. (6/161)
Megakaryocytes from 5 patients and 1 normal person were observed electronmicroscopically. In some pathologic states platelets seemed to be liberated without demarcation membrane system (DMS) and in a normal individual they seemed to be liberated independently of DMS. These findings suggest that DMS is not concerned with platelet liberation and that platelets are liberated through pseudopodia and bleb formation. In mature megakaryocytes vigorous amoeboid movement seems to exist and both pseudopodia and blebs may represent this movement. Structural similarity between surface connected system (SCS) of platelet and DMS of megakaryocyte suggests that the structure called DMS is transported as SCS into platelet. (+info)Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (7/161)
In a series of 841 patients with hematologic disorders, 10 individuals were found to have an extra C group chromosome in their bone marrow cells. In two the extra chromosome was not identified, but in the remaining eight it was No. 8. Four of these ten patients had leukemia, and the others had cytopenias or other probably preleukemic conditions. The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders. The extent of enzyme activation as a result of preincubation with exogenous flavin adenine dinucleotide was similar in the erythrocytes of all groups. The reasons for the high values of red cell glutathione reductase activity in patients with trisomy 8 are discussed in the light of the proposed assignment of the gene for that enzyme to chromosome 8. (+info)Successful allogeneic bone marrow transplantation for childhood-onset refractory anemia with ringed sideroblasts. (8/161)
Refractory anemia with ringed sideroblasts (RARS) is an extremely rare type of myelodysplastic syndrome in children. We describe a 10-year-old boy with RARS presented with pancytopenia. He remained relatively stable with only a few transfusions until age of 20 years, when he underwent an allogeneic bone marrow transplantation (BMT) because of increased transfusion requirements. He remains in complete chimeric state at 20 months posttransplant with normal hematologic parameters. To our knowledge, this is the first description of successful BMT in a patient with childhood-onset RARS. The indication of BMT for this rare disorder in children is discussed. (+info)Sideroblastic anemia is a type of anemia characterized by the presence of ringed sideroblasts in the bone marrow. Ringed sideroblasts are red blood cell precursors that have an abnormal amount of iron accumulated in their mitochondria, which forms a ring around the nucleus. This results in the production of abnormal hemoglobin and impaired oxygen transport.
Sideroblastic anemia can be classified as congenital or acquired. Congenital sideroblastic anemias are caused by genetic defects that affect heme synthesis or mitochondrial function, while acquired sideroblastic anemias are associated with various conditions such as myelodysplastic syndromes, chronic alcoholism, lead toxicity, and certain medications.
Symptoms of sideroblastic anemia may include fatigue, weakness, shortness of breath, and pallor. Diagnosis is typically made through a bone marrow aspiration and biopsy, which can identify the presence of ringed sideroblasts. Treatment depends on the underlying cause but may include iron chelation therapy, vitamin B6 supplementation, or blood transfusions.
5-Aminolevulinate synthase (ALAS) is an enzyme that catalyzes the first step in heme biosynthesis, a metabolic pathway that produces heme, a porphyrin ring with an iron atom at its center. Heme is a crucial component of hemoglobin, cytochromes, and other important molecules in the body.
ALAS exists in two forms: ALAS1 and ALAS2. ALAS1 is expressed in all tissues, while ALAS2 is primarily expressed in erythroid cells (precursors to red blood cells). The reaction catalyzed by ALAS involves the condensation of glycine and succinyl-CoA to form 5-aminolevulinate.
Deficiencies or mutations in the ALAS2 gene can lead to a rare genetic disorder called X-linked sideroblastic anemia, which is characterized by abnormal red blood cell maturation and iron overload in mitochondria.
Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.
Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.
There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.
Refractory anemia is a type of anemia that does not respond to typical treatments, such as iron supplements or hormonal therapy. It is often associated with various bone marrow disorders, including myelodysplastic syndromes (MDS), a group of conditions characterized by abnormal blood cell production in the bone marrow.
In refractory anemia, the bone marrow fails to produce enough healthy red blood cells, leading to symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition can be difficult to treat, and treatment options may include more aggressive therapies such as immunosuppressive drugs, chemotherapy, or stem cell transplantation.
It is important to note that the term "refractory" in this context refers specifically to the lack of response to initial treatments, rather than a specific severity or type of anemia.
X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.
Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.
Pyridoxine is the chemical name for Vitamin B6. According to the medical definition, Pyridoxine is a water-soluble vitamin that is part of the B-vitamin complex and is essential for the metabolism of proteins, carbohydrates, and fats. It plays a vital role in the regulation of homocysteine levels in the body, the formation of neurotransmitters such as serotonin and dopamine, and the synthesis of hemoglobin.
Pyridoxine can be found naturally in various foods, including whole grains, legumes, vegetables, nuts, seeds, meat, poultry, and fish. It is also available as a dietary supplement and may be prescribed by healthcare providers to treat or prevent certain medical conditions, such as vitamin B6 deficiency, anemia, seizures, and carpal tunnel syndrome.
Like other water-soluble vitamins, Pyridoxine cannot be stored in the body and must be replenished regularly through diet or supplementation. Excessive intake of Pyridoxine can lead to toxicity symptoms such as nerve damage, skin lesions, and light sensitivity.
Mitochondrial myopathies are a group of genetic disorders caused by mutations in the mitochondrial DNA or nuclear DNA that affect the function of the mitochondria, which are the energy-producing structures in cells. These mutations can result in impaired muscle function and other symptoms, depending on the specific type and severity of the disorder.
Mitochondrial myopathies can present at any age and can cause a range of symptoms, including muscle weakness, exercise intolerance, fatigue, muscle pain, and difficulty with coordination and balance. Some people with mitochondrial myopathies may also experience neurological symptoms such as seizures, developmental delays, and hearing or vision loss.
The diagnosis of mitochondrial myopathies typically involves a combination of clinical evaluation, muscle biopsy, genetic testing, and other diagnostic tests to assess mitochondrial function. Treatment is generally supportive and may include physical therapy, medications to manage symptoms, and nutritional support. In some cases, specific therapies such as vitamin or coenzyme Q10 supplementation may be recommended based on the underlying genetic defect.
Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.
The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.
Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.
Erythroblasts are immature red blood cells that are produced in the bone marrow. They are also known as normoblasts and are a stage in the development of red blood cells, or erythrocytes. Erythroblasts are larger than mature red blood cells and have a nucleus, which is lost during the maturation process. These cells are responsible for producing hemoglobin, the protein that carries oxygen in the blood. Abnormal increases or decreases in the number of erythroblasts can be indicative of certain medical conditions, such as anemia or leukemia.
Refractory anemia with excess blasts is a type of blood disorder that is characterized by the presence of increased numbers of immature blood cells, or "blasts," in the bone marrow and peripheral blood. This condition is considered a subtype of myelodysplastic syndrome (MDS), which is a group of disorders caused by abnormalities in the production of blood cells in the bone marrow.
In refractory anemia with excess blasts, the bone marrow fails to produce sufficient numbers of healthy red blood cells, white blood cells, and platelets. This results in anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). Additionally, there is an increased number of blasts in the bone marrow and peripheral blood, which can indicate the development of acute myeloid leukemia (AML), a more aggressive form of blood cancer.
Refractory anemia with excess blasts is considered "refractory" because it does not respond well to treatment, including chemotherapy and stem cell transplantation. The prognosis for this condition varies depending on the severity of the disease and other individual factors, but it is generally poor, with many patients progressing to AML within a few years.
The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).
The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:
1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.
The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.
Lactic acidosis is a medical condition characterized by an excess accumulation of lactic acid in the body. Lactic acid is a byproduct produced in the muscles and other tissues during periods of low oxygen supply or increased energy demand. Under normal circumstances, lactic acid is quickly metabolized and cleared from the body. However, when the production of lactic acid exceeds its clearance, it can lead to a state of acidosis, where the pH of the blood becomes too acidic.
Lactic acidosis can be caused by several factors, including:
* Prolonged exercise or strenuous physical activity
* Severe illness or infection
* Certain medications, such as metformin and isoniazid
* Alcoholism
* Hypoxia (low oxygen levels) due to lung disease, heart failure, or anemia
* Inherited metabolic disorders that affect the body's ability to metabolize lactic acid
Symptoms of lactic acidosis may include rapid breathing, fatigue, muscle weakness, nausea, vomiting, and abdominal pain. Severe cases can lead to coma, organ failure, and even death. Treatment typically involves addressing the underlying cause of the condition and providing supportive care, such as administering intravenous fluids and bicarbonate to help restore normal pH levels.
Glutaredoxins (Grxs) are small, ubiquitous proteins that belong to the thioredoxin superfamily. They play a crucial role in maintaining the redox balance within cells by catalyzing the reversible reduction of disulfide bonds and mixed disulfides between protein thiols and low molecular weight compounds, using glutathione (GSH) as a reducing cofactor.
Glutaredoxins are involved in various cellular processes, such as:
1. DNA synthesis and repair
2. Protein folding and degradation
3. Antioxidant defense
4. Regulation of enzyme activities
5. Iron-sulfur cluster biogenesis
There are two main classes of glutaredoxins, Grx1 and Grx2, which differ in their active site sequences and functions. In humans, Grx1 is primarily located in the cytosol, while Grx2 is found in both the cytosol and mitochondria.
The medical relevance of glutaredoxins lies in their role as antioxidant proteins that protect cells from oxidative stress and maintain cellular redox homeostasis. Dysregulation of glutaredoxin function has been implicated in several pathological conditions, including neurodegenerative diseases, cancer, and aging-related disorders.
Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.
Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.
Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.
"Preleukemia" is a term that was used historically to describe conditions characterized by the presence of preleukemic cells or certain genetic changes that could potentially progress into acute leukemia. However, this terminology has largely been replaced in modern medicine.
Currently, the preferred terms are "clonal hematopoiesis" or "clonal cytopenias of undetermined significance (CCUS)" for conditions where there is an expansion of blood cells with certain genetic mutations but without evidence of progression to acute leukemia.
One example of this is a condition called "clonal hematopoiesis of indeterminate potential" (CHIP), which is defined by the presence of certain somatic mutations in hematopoietic stem cells, but without evidence of cytopenias or progression to malignancy.
It's important to note that not all individuals with CHIP will develop leukemia, and many may never experience any symptoms related to this condition. However, the presence of CHIP has been associated with an increased risk of hematologic cancers, as well as cardiovascular disease.
In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.
The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:
* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day
Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.
I'm sorry for any confusion, but "Hydro-Lyases" is not a recognized medical term or category in biochemistry. It seems like there might be a misunderstanding or a typo in the term.
In biochemistry, "lyases" are enzymes that catalyze the removal of groups from substrates by means other than hydrolysis or oxidation, often forming a double bond or a ring-forming reaction. They are classified and named based on the type of bond they break.
If you meant to ask about a specific enzyme or reaction, could you please provide more context or clarify the term? I'd be happy to help further with accurate information.
Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.
The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.
Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.
Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.
Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.
Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.
Bone marrow is the spongy tissue found inside certain bones in the body, such as the hips, thighs, and vertebrae. It is responsible for producing blood-forming cells, including red blood cells, white blood cells, and platelets. There are two types of bone marrow: red marrow, which is involved in blood cell production, and yellow marrow, which contains fatty tissue.
Red bone marrow contains hematopoietic stem cells, which can differentiate into various types of blood cells. These stem cells continuously divide and mature to produce new blood cells that are released into the circulation. Red blood cells carry oxygen throughout the body, white blood cells help fight infections, and platelets play a crucial role in blood clotting.
Bone marrow also serves as a site for immune cell development and maturation. It contains various types of immune cells, such as lymphocytes, macrophages, and dendritic cells, which help protect the body against infections and diseases.
Abnormalities in bone marrow function can lead to several medical conditions, including anemia, leukopenia, thrombocytopenia, and various types of cancer, such as leukemia and multiple myeloma. Bone marrow aspiration and biopsy are common diagnostic procedures used to evaluate bone marrow health and function.
Hemolytic anemia, autoimmune is a type of anemia characterized by the premature destruction of red blood cells (RBCs) in which the immune system mistakenly attacks and destroys its own RBCs. This occurs when the body produces autoantibodies that bind to the surface of RBCs, leading to their rupture (hemolysis). The symptoms may include fatigue, weakness, shortness of breath, and dark colored urine. The diagnosis is made through blood tests that measure the number and size of RBCs, reticulocyte count, and the presence of autoantibodies. Treatment typically involves suppressing the immune system with medications such as corticosteroids or immunosuppressive drugs, and sometimes removal of the spleen (splenectomy) may be necessary.
Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.
Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.
X-linked genes are those genes that are located on the X chromosome. In humans, females have two copies of the X chromosome (XX), while males have one X and one Y chromosome (XY). This means that males have only one copy of each X-linked gene, whereas females have two copies.
X-linked genes are important in medical genetics because they can cause different patterns of inheritance and disease expression between males and females. For example, if a mutation occurs in an X-linked gene, it is more likely to affect males than females because males only have one copy of the gene. This means that even a single mutated copy of the gene can cause the disease in males, while females may be carriers of the mutation and not show any symptoms due to their second normal copy of the gene.
X-linked recessive disorders are more common in males than females because they only have one X chromosome. Examples of X-linked recessive disorders include Duchenne muscular dystrophy, hemophilia, and color blindness. In contrast, X-linked dominant disorders can affect both males and females, but females may have milder symptoms due to their second normal copy of the gene. Examples of X-linked dominant disorders include Rett syndrome and incontinentia pigmenti.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and functions as a cofactor in various enzymatic reactions in the human body. It plays a crucial role in the metabolism of amino acids, carbohydrates, lipids, and neurotransmitters. Pyridoxal phosphate is involved in more than 140 different enzyme-catalyzed reactions, making it one of the most versatile cofactors in human biochemistry.
As a cofactor, pyridoxal phosphate helps enzymes carry out their functions by facilitating chemical transformations in substrates (the molecules on which enzymes act). In particular, PLP is essential for transamination, decarboxylation, racemization, and elimination reactions involving amino acids. These processes are vital for the synthesis and degradation of amino acids, neurotransmitters, hemoglobin, and other crucial molecules in the body.
Pyridoxal phosphate is formed from the conversion of pyridoxal (a form of vitamin B6) by the enzyme pyridoxal kinase, using ATP as a phosphate donor. The human body obtains vitamin B6 through dietary sources such as whole grains, legumes, vegetables, nuts, and animal products like poultry, fish, and pork. It is essential to maintain adequate levels of pyridoxal phosphate for optimal enzymatic function and overall health.
Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.
The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.
Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.
Pernicious anemia is a specific type of vitamin B12 deficiency anemia that is caused by a lack of intrinsic factor, a protein made in the stomach that is needed to absorb vitamin B12. The absence of intrinsic factor leads to poor absorption of vitamin B12 from food and results in its deficiency.
Vitamin B12 is essential for the production of healthy red blood cells, which carry oxygen throughout the body. Without enough vitamin B12, the body cannot produce enough red blood cells, leading to anemia. Pernicious anemia typically develops slowly over several years and can cause symptoms such as fatigue, weakness, pale skin, shortness of breath, and a decreased appetite.
Pernicious anemia is an autoimmune disorder, which means that the body's immune system mistakenly attacks healthy cells in the stomach lining, leading to a loss of intrinsic factor production. It is more common in older adults, particularly those over 60 years old, and can also be associated with other autoimmune disorders such as type 1 diabetes, Hashimoto's thyroiditis, and Addison's disease.
Treatment for pernicious anemia typically involves vitamin B12 replacement therapy, either through oral supplements or injections of the vitamin. In some cases, dietary changes may also be recommended to ensure adequate intake of vitamin B12-rich foods such as meat, fish, poultry, and dairy products.
Heme is not a medical term per se, but it is a term used in the field of medicine and biology. Heme is a prosthetic group found in hemoproteins, which are proteins that contain a heme iron complex. This complex plays a crucial role in various biological processes, including oxygen transport (in hemoglobin), electron transfer (in cytochromes), and chemical catalysis (in peroxidases and catalases).
The heme group consists of an organic component called a porphyrin ring, which binds to a central iron atom. The iron atom can bind or release electrons, making it essential for redox reactions in the body. Heme is also vital for the formation of hemoglobin and myoglobin, proteins responsible for oxygen transport and storage in the blood and muscles, respectively.
In summary, heme is a complex organic-inorganic structure that plays a critical role in several biological processes, particularly in electron transfer and oxygen transport.
A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.
Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.
Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.
People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.
There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.
Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.
The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.
Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.
Sideroblastic anemia
X-linked sideroblastic anemia and spinocerebellar ataxia
Lead poisoning
List of OMIM disorder codes
ALAS1
Zinc toxicity
Pappenheimer bodies
ALAS2
Myelodysplastic syndrome
Copper deficiency
Anisochromia
GLRX5
Mitochondrial ferritin
Cytochrome c oxidase subunit I
Pearson syndrome
Mitochondrial glycine transporter
ABCB7
PUS1
X-linked recessive inheritance
RNA editing
NDUFB11
SUCLA2
Thiamine transporter 1
Erythropoietic porphyria
Isoniazid
Pseudouridine
Aminolevulinic acid synthase
List of hematologic conditions
Non-sideropenic hypochromic anaemia
MERRF syndrome
Mean corpuscular volume
Sideroblastic anemia - Wikipedia
X-linked sideroblastic anemia: MedlinePlus Genetics
Sideroblastic Anemias: Practice Essentials, Background, Pathophysiology
Anemia sideroblastic and spinocerebellar ataxia - CheckOrphan
Sideroblastic Anemias: Background, Pathophysiology, Etiology
Anemia, Sideroblastic (medical condition) - Chemwatch
Hereditary Sideroblastic Anemia | Asper Biogene
Sideroblastic anaemia - Microcytic hypchromic anaemia
Sideroblastic Anemias - Hematology and Oncology - MSD Manual Professional Edition
Treatment of Acquired Sideroblastic Anemias<...
FAMILIAL SIDEROBLASTIC ANÆMIA: PROBLEM OF Xg AND X CHROMOSOME INACTIVATION - MRC Weatherall Institute of Molecular Medicine
Types of anemia-2, pernicious anemia, Sideroblastic anemia, Anemia of chronic disease, types,causes
Recurrent acquired sideroblastic anemia in a twin pregnancy - Nuffield Department of Women's & Reproductive Health
Hereditary and Acquired Sideroblastic Anemias | Williams Manual of Hematology, 10e | AccessHemOnc | McGraw Hill Medical
Therapeutic Phlebotomy - Medical Clinical Policy Bulletins | Aetna
Stitching, Sectioning and the Z-Stack Function as Decisive Arguments for the Acquisition of the BZ Fluorescence Microscope at...
Low Platelet Count (Thrombocytopenia)
Porphyria Overview: Practice Essentials, Background, Pathophysiology
Lead poisoning - Wikipedia
Pearson's marrow/pancreas syndrome: a histological and genetic study
Advanced Search Results - Public Health Image Library(PHIL)
Hematology - 9780323733885
PBG urine test
Zyvox (linezolid) dosing, indications, interactions, adverse effects, and more
The expanding world of tRNA modifications and their disease relevance | Nature Reviews Molecular Cell Biology
Iron Study Interpretation: Iron Study Interpretation
Expanded Carrier Screening | Thermo Fisher Scientific - US
Vol. 103 No. 5 (2018): May, 2018 | Haematologica
Heme10
- citation needed] Congenital sideroblastic anemia X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia and involves a defect in ALAS2, which is involved in the first step of heme synthesis. (wikipedia.org)
- Acquired reversible sideroblastic anemia Causes include excessive alcohol use (the most common cause of sideroblastic anemia), pyridoxine deficiency (vitamin B6 is the cofactor in the first step of heme synthesis), lead poisoning and copper deficiency. (wikipedia.org)
- Defects involving incorporation of iron into the heme molecule result in sideroblastic anemia. (medscape.com)
- [ 9 ] This development impairs the first crucial step in the heme synthesis pathway, the formation of δ-amino levulinic acid, resulting in anemia despite intact iron delivery to the mitochondrion and with a lack of heme in which iron is to be incorporated in the final step of this pathway. (medscape.com)
- Defects involving incorporation of iron into the heme molecule result in sideroblastic anemias. (medscape.com)
- The defect results in impaired oxidative phosphorylation, which explains the muscle and nerve manifestations, and sideroblastic anemia due to dysfunctional mitochondria, the center of heme synthesis. (medscape.com)
- Sideroblastic anemias are iron-utilization anemias, which are characterized by inadequate mitochondrial utilization of iron due to impaired heme synthesis despite the presence of adequate or increased amounts of iron. (msdmanuals.com)
- In both acquired and congenital sideroblastic anemia, heme synthesis is impaired due to the inability to incorporate iron into protoporphyrin IX, leading to the formation of ringed sideroblasts. (msdmanuals.com)
- Drugs that reduce the formation of pyridoxal 5′-phosphate from pyridoxine decrease heme synthesis and can cause sideroblastic anemia. (mhmedical.com)
- Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. (ucsfhealth.org)
Hypochromic3
- People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. (medlineplus.gov)
- As sideroblastic anaemia results in a microcytic hypochromic anaemia, it may be misdiagnosed as iron deficiency. (brainkart.com)
- Congenital sideroblastic anemia is caused by one of numerous X-linked or autosomal mutations and is usually a microcytic, hypochromic anemia but may be normocytic. (msdmanuals.com)
Cause sideroblastic anemia1
- Excess zinc can indirectly cause sideroblastic anemia by decreasing absorption and increasing excretion of copper. (wikipedia.org)
Hereditary sideroblastic anemia2
- Patients with syndromic hereditary sideroblastic anemia may experience diabetes mellitus and deafness. (wikipedia.org)
- Hereditary Sideroblastic Anemia NGS panel is now available. (asperbio.com)
Hematology1
- Mangaonkar, AA & Patnaik, MM 2020, ' Treatment of Acquired Sideroblastic Anemias ', Hematology/Oncology Clinics of North America , vol. 34, no. 2, pp. 401-420. (elsevierpure.com)
Sideroblasts6
- Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (wikipedia.org)
- The presence of sideroblasts per se does not define sideroblastic anemia. (wikipedia.org)
- Only the finding of ring (or ringed) sideroblasts characterizes sideroblastic anemia. (wikipedia.org)
- Three forms exist and include refractory anemia with ringed sideroblasts (RARS), refractory anemia with ringed sideroblasts and thrombocytosis (RARS-T), and refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS). (wikipedia.org)
- Sideroblastic anemias are a diverse group of anemias characterized by the presence of increased serum iron, ferritin, and transferrin saturation as well as ringed sideroblasts (erythroblasts with perinuclear iron-engorged mitochondria). (msdmanuals.com)
- Clonal sideroblastic anemias refer to myeloid neoplasms with ring sideroblasts (RS) and frequently have somatic perturbations in the SF3B1 gene. (elsevierpure.com)
Pernicious anemia2
- Inability to absorb vitamin B12 from the intestinal tract can be caused by pernicious anemia. (naturalmedicinejournal.com)
- Pernicious anemia is a type of megaloblastic anemia caused by vitamin B12 deficiency, and it should be treated with vitamin B12. (naturalmedicinejournal.com)
Mutations4
- Autosomal recessive sideroblastic anemia involves mutations in the SLC25A38 gene. (wikipedia.org)
- Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. (medlineplus.gov)
- Autosomal recessive sideroblastic anemia has been described in conjunction with mitochondrial myopathy and lactic acidosis in Jews of Persian descent, resulting from pseudouridine synthase-1 (PUS-1) mutations. (medscape.com)
- Several years ago, spliceosome mutations in the SF3B1 gene were found to be present in 75-80% of all patients with sideroblastic anemia. (keyence.com)
Deficiency33
- [ 4 ] Non-clonal conditions associated with the presence of RSs include alcoholism, lead poisoning, zinc overdose, copper or pyridoxine deficiency, and congenital sideroblastic anemias (CSAs). (medscape.com)
- Iron deficiency anemia develops when body stores of iron drop too low to support normal red blood cell (RBC) production. (medscape.com)
- Treatment of iron deficiency anemia consists of correcting the underlying etiology and replenishing iron stores. (medscape.com)
- For patient education resources, see the Iron Deficiency Directory and Anemia. (medscape.com)
- Iron deficiency anemia occurs when iron deficiency is severe enough to diminish erythropoiesis and cause the development of anemia. (medscape.com)
- See related handout on iron deficiency anemia , written by the authors of this article. (aafp.org)
- Iron deficiency is the most common nutritional disorder worldwide and accounts for approximately one-half of anemia cases. (aafp.org)
- The diagnosis of iron deficiency anemia is confirmed by the findings of low iron stores and a hemoglobin level two standard deviations below normal. (aafp.org)
- Men and postmenopausal women should not be screened, but should be evaluated with gastrointestinal endoscopy if diagnosed with iron deficiency anemia. (aafp.org)
- Iron deficiency anemia is diminished red blood cell production due to low iron stores in the body. (aafp.org)
- 1 , 2 Iron deficiency anemia can result from inadequate iron intake, decreased iron absorption, increased iron demand, and increased iron loss. (aafp.org)
- Measurement of the serum ferritin level is the most accurate test to diagnose iron deficiency anemia. (aafp.org)
- All pregnant women should be screened for iron deficiency anemia. (aafp.org)
- All adult men and postmenopausal women with iron deficiency anemia should be screened for gastrointestinal malignancy. (aafp.org)
- Screening serology for celiac disease should be considered for all adults with iron deficiency anemia. (aafp.org)
- Diagnosis of iron deficiency anemia requires laboratory-confirmed evidence of anemia, as well as evidence of low iron stores. (aafp.org)
- Although iron deficiency is the most common cause of microcytic anemia, up to 40 percent of patients with iron deficiency anemia will have normocytic erythrocytes. (aafp.org)
- 2 As such, iron deficiency should still be considered in all cases of anemia unless the mean corpuscular volume is greater than 95 μm 3 (95 fL), because this cutoff has a sensitivity of 97.6 percent. (aafp.org)
- Ferritin reflects iron stores and is the most accurate test to diagnose iron deficiency anemia. (aafp.org)
- 7 Although levels below 15 ng per mL (33.70 pmol per L) are consistent with a diagnosis of iron deficiency anemia, using a cutoff of 30 ng per mL (67.41 pmol per L) improves sensitivity from 25 to 92 percent, and specificity remains high at 98 percent. (aafp.org)
- In patients with chronic inflammation, iron deficiency anemia is likely when the ferritin level is less than 50 ng per mL (112.35 pmol per L). 7 Ferritin values greater than or equal to 100 ng per mL (224.70 pmol per L) generally exclude iron deficiency anemia. (aafp.org)
- Folate deficiency anemia occurs when a person has a low level of folate, or vitamin B-9, in their body. (medicalnewstoday.com)
- In this article, we explore the causes, symptoms, and complications relating to folate deficiency anemia. (medicalnewstoday.com)
- What is folate deficiency anemia? (medicalnewstoday.com)
- Folate deficiency anemia is one of many different types of anemia. (medicalnewstoday.com)
- Getting enough folate through the diet and supplements is the best way to prevent folate deficiency anemia. (medicalnewstoday.com)
- The medical name of this problem is iron deficiency anemia. (stlukes-stl.com)
- Administration of Seromycin and other antituberculosis drugs has been associated in a few instances with vitamin B 12 and/or folic-acid deficiency, megaloblastic anemia, and sideroblastic anemia. (nih.gov)
- From anemia to neurological issues, the symptoms of copper deficiency are varied and may often be overlooked or misattributed to other health conditions. (localquoter.net)
- Copper's involvement in iron absorption is essential, and its deficiency can lead to anemia. (localquoter.net)
- Vitamin B12 deficiency is a cause of megaloblastic anemia, in which red blood cells are larger than normal and the ratio of nucleus size to cell cytoplasm is increased. (naturalmedicinejournal.com)
- There are other potential causes of megaloblastic anemia, including folate deficiency or various inborn metabolic disorders. (naturalmedicinejournal.com)
- People at risk for vitamin B12 deficiency include strict vegetarians, elderly people, breastfed infants, and people with increased vitamin B12 requirements associated with pregnancy, thyrotoxicosis, hemolytic anemia, hemorrhage, malignancy, or liver or kidney disease. (naturalmedicinejournal.com)
Synthesis1
- Antimicrobials that may lead to sideroblastic anemia include isoniazid (which interferes with pyridoxine metabolism), chloramphenicol (which, by inhibiting the synthesis of mitochondrial membrane protein, impairs mitochondrial respiration), cycloserine, and linezolid. (wikipedia.org)
Myelodysplastic syndrome3
- Congenital sideroblastic anemias generally involve lower hemoglobin levels, more microcytosis, and higher serum iron levels compared with myelodysplastic syndrome. (medscape.com)
- Primary acquired sideroblastic anaemia is treated as for myelodysplastic syndrome. (brainkart.com)
- Acquired sideroblastic anemia is frequently associated with the myelodysplastic syndrome Myelodysplastic Syndrome (MDS) (but may be caused by medications or toxins) and causes a normocytic or macrocytic anemia. (msdmanuals.com)
Mitochondrial4
- This is the most common of the hereditary sideroblastic anemias, followed by mitochondrial transporter defects such as SLC25A38 gene mutation discussed below. (medscape.com)
- [ 12 ] is a juvenile multisystem disorder caused by deletions in mitochondrial DNA (mtDNA) and manifested as severe, refractory sideroblastic anemia, neutropenia, vacuolated cells in bone-marrow precursors, exocrine pancreas insufficiency, malabsorption, and growth failure. (medscape.com)
- Sideroblastic anemias are a heterogeneous group of disorders unified by the presence of abnormal erythroid precursors with perinuclear mitochondrial iron deposition in the bone marrow. (elsevierpure.com)
- There are a number of disease states, including Friedreich's ataxia (FA) and sideroblastic anemia, where iron metabolism is dysregulated and leads to mitochondrial iron accumulation. (curefa.org)
Normocytic or macrocytic1
- Congenital forms often present with normocytic or microcytic anemia while acquired forms of sideroblastic anemia are often normocytic or macrocytic. (wikipedia.org)
Macrocytic1
- A patient with features of Pearson's syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropenia, thrombocytopenia, and insulin-dependent diabetes mellitus in the neonatal period is described. (nih.gov)
ALAS22
- People who have a mutation in another gene, HFE , along with a mutation in the ALAS2 gene may experience a more severe form of X-linked sideroblastic anemia. (medlineplus.gov)
- Carriers of an ALAS2 mutation can pass on the mutated gene, but most do not develop any symptoms associated with X-linked sideroblastic anemia. (medlineplus.gov)
Congenital or acquired1
- Sideroblastic anemias may be either congenital or acquired (see the image below). (medscape.com)
Symptoms10
- citation needed] Symptoms of sideroblastic anemia include skin paleness, fatigue, dizziness, and enlarged spleen and liver. (wikipedia.org)
- Symptoms of sideroblastic anemia usually resemble the common symptoms of anemia. (wikipedia.org)
- In addition to the symptoms listed above, patients with sideroblastic anemia may experience shortness of breath, heart palpitations, and headache. (wikipedia.org)
- The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. (medlineplus.gov)
- Patients initially present with symptoms and signs of anaemia. (brainkart.com)
- Symptoms are those of anemia and include fatigue and lethargy. (msdmanuals.com)
- When a person does not have enough folate , they develop anemia , the symptoms of which include fatigue , weakness, and pale skin. (medicalnewstoday.com)
- Mild anemia may have no symptoms. (stlukes-stl.com)
- Researchers have reported that these symptoms may occur when vitamin B12 levels are just slightly lower than normal and are considerably above the levels normally associated with anemia. (naturalmedicinejournal.com)
- CASE PRESENTATION: Our patient is a 69-year-old female diagnosed with CAD after presenting with severe anemia and significant circulatory symptoms. (bvsalud.org)
Clonal2
- Causes of sideroblastic anemia can be categorized into three groups: congenital sideroblastic anemia, acquired clonal sideroblastic anemia, and acquired reversible sideroblastic anemia. (wikipedia.org)
- Acquired clonal sideroblastic anemia Clonal sideroblastic anemias fall under the broader category of myelodysplastic syndromes (MDS). (wikipedia.org)
Severe1
- [2] In severe cases, anemia , seizures , coma , or death may occur. (wikipedia.org)
Ataxia3
- Genetic syndromes: Rarely, sideroblastic anemia may be part of a congenital syndrome and present with associated findings, such as ataxia, myopathy, and pancreatic insufficiency. (wikipedia.org)
- A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements). (checkorphan.org)
- In contrast to pyridoxine-responsive sideroblastic anemia, the ABC7 defect has a nonprogressive cerebellar ataxia component with diminished deep-tendon reflexes, incoordination, and elevated free erythrocyte protoporphyrin. (medscape.com)
Hemolytic Anemia4
- In hemolytic anemia, lactic dehydrogenase (LDH) levels typically increase while haptoglobin levels decrease. (medscape.com)
- In a retrospective study from 1980, the sensitivity and specificity of haptoglobin in the diagnosis of hemolytic anemia was 83% and 96%, respectively. (medscape.com)
- for example hypersplenism plus hemolytic anemia may result in a false-normal overall serum value. (medscape.com)
- BACKGROUND: Cold agglutinin disease (CAD) is immune-mediated hemolytic anemia. (bvsalud.org)
Isoniazid1
- Secondary acquired sideroblastic anaemia may be caused by drugs (e.g. isoniazid) or toxins such as lead or alcohol. (brainkart.com)
Diagnosis1
- Sideroblastic anemia is primarily a laboratory diagnosis, made on the basis of bone marrow examination with Prussian blue stain. (medscape.com)
Refractory1
- The anaemia is however refractory to iron supplementation. (brainkart.com)
Pyridoxine-resistant1
- A prototype of pyridoxine-resistant X-linked sideroblastic anemia is the ABC7 gene mutation. (medscape.com)
Syndrome1
- novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency , periodic fevers, and developmental delay (SIFD). (nih.gov)
Mitochondria2
- The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders characterized by pathological iron accumulation in the mitochondria of red blood cell precursors (nucleated erythroblasts). (medscape.com)
- Sideroblastic anemia is a special form of MDS which involves a massive iron overload of the mitochondria in the erythropoiesis progenitor cells. (keyence.com)
Disorders1
- What is sideroblastic anemia?साइडरोबलास्टिक एनीमिया (एसए - SA) एक दुर्लभ रक्त विकार (rare blood disorders) है जो कि आपके शरीर लाल रक्त कोशिकाओं के उत्पादन को प्रभावित कि वह कैसे उत्पादन करता है। यदि आपको साइडरोबलास्टिक. (medtalks.in)
Erythroid1
- Anemia that is the result of apoptosis of late erythroid precursors (ie, ineffective erythropoiesis), with increased plasma iron turnover and normal to decreased red cell survival. (mhmedical.com)
Patients4
- Anemia is a major cause of morbidity in patients, and restoration of effective erythropoiesis is a major treatment goal. (elsevierpure.com)
- The following diagnostic approach is recommended in patients with anemia and is outlined in Figure 1 . (aafp.org)
- 2 , 6 - 11 A serum ferritin level should be obtained in patients with anemia and a mean corpuscular volume less than 95 μm 3 . (aafp.org)
- Patients with anemia should be evaluated by a physician in order to diagnose and address the underlying cause. (naturalmedicinejournal.com)
Hemoglobin4
- In sideroblastic anemia, the body has iron available but cannot incorporate it into hemoglobin, which red blood cells need in order to transport oxygen efficiently. (wikipedia.org)
- Low hemoglobin levels and the resulting accumulation of iron in the body's organs lead to the characteristic features of X-linked sideroblastic anemia. (medlineplus.gov)
- Overview of Decreased Erythropoiesis Anemia, a decrease in the number of red blood cells (RBCs), hemoglobin (Hb) content, or hematocrit (Hct), can result from decreased RBC production (erythropoiesis), increased RBC destruction. (msdmanuals.com)
- 4 Anemia is defined as a hemoglobin level two standard deviations below normal for age and sex ( Table 1 ) . (aafp.org)
Primary2
- Primary acquired sideroblastic anaemia is one of the myelodysplastic syndromes. (brainkart.com)
- Primary sideroblastic anemia (myelodysplastic syndromes) (see Chap. 44 ). (mhmedical.com)
Secondary1
- In secondary acquired sideroblastic anaemia any causative agent should be removed where possible. (brainkart.com)
Evidence of anemia1
- If evidence of anemia develops during treatment, appropriate studies and therapy should be instituted. (nih.gov)
Iron4
- Sideroblastic anemias are sometimes characterized by the presence of polychromatophilia (indicative of an increased number of reticulocytes) and stippled red blood cells (siderocytes) containing iron-laden granules (Pappenheimer bodies). (msdmanuals.com)
- Iron helps make red blood cells, so a lack of iron in the body may lead to anemia. (stlukes-stl.com)
- A diet that does not have enough iron is the most common cause of this type of anemia in children. (stlukes-stl.com)
- If a healthy diet does not prevent or treat your child's low iron level and anemia, the doctor will likely recommend iron supplements for your child. (stlukes-stl.com)
Fatigue1
- Anemia, in turn, leads to fatigue as the body is unable to carry sufficient oxygen to meet its energy demands. (localquoter.net)